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SV2C (synaptic vesicle glycoprotein 2C)

Identity

Alias (NCBI)-
HGNC (Hugo) SV2C
LocusID (NCBI) 22987
Atlas_Id 54678
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 76083383 and ends at 76333956 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PPM1H (12q14.1)::SV2C (5q13.3)RAB11FIP1 (8p11.23)::SV2C (5q13.3)SKIV2L2 (5q11.2)::SV2C (5q13.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)SV2C   30670
Cards
Entrez_Gene (NCBI)SV2C    synaptic vesicle glycoprotein 2C
Aliases
GeneCards (Weizmann)SV2C
Ensembl hg19 (Hinxton)ENSG00000122012 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122012 [Gene_View]  ENSG00000122012 [Sequence]  chr5:76083383-76333956 [Contig_View]  SV2C [Vega]
ICGC DataPortalENSG00000122012
TCGA cBioPortalSV2C
AceView (NCBI)SV2C
Genatlas (Paris)SV2C
SOURCE (Princeton)SV2C
Genetics Home Reference (NIH)SV2C
Genomic and cartography
GoldenPath hg38 (UCSC)SV2C  -     chr5:76083383-76333956 +  5q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SV2C  -     5q13.3   [Description]    (hg19-Feb_2009)
GoldenPathSV2C - 5q13.3 [CytoView hg19]  SV2C - 5q13.3 [CytoView hg38]
ImmunoBaseENSG00000122012
Genome Data Viewer NCBISV2C [Mapview hg19]  
OMIM610291   
Gene and transcription
Genbank (Entrez)AB028977 AK094917 AK094995 BC100824 BC100825
RefSeq transcript (Entrez)NM_001297716 NM_014979
Consensus coding sequences : CCDS (NCBI)SV2C
Gene ExpressionSV2C [ NCBI-GEO ]   SV2C [ EBI - ARRAY_EXPRESS ]   SV2C [ SEEK ]   SV2C [ MEM ]
Gene Expression Viewer (FireBrowse)SV2C [ Firebrowse - Broad ]
GenevisibleExpression of SV2C in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22987
GTEX Portal (Tissue expression)SV2C
Human Protein AtlasENSG00000122012-SV2C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ496J9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ496J9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ496J9
PhosPhoSitePlusQ496J9
Domaine pattern : Prosite (Expaxy)MFS (PS50850)   
Domains : Interpro (EBI)5peptide_repeat    MFS    MFS_dom    MFS_sugar_transport-like    MFS_trans_sf    Sugar_transporter_CS    SV2   
Domain families : Pfam (Sanger)MFS_1 (PF07690)    Pentapeptide_4 (PF13599)    Sugar_tr (PF00083)   
Domain families : Pfam (NCBI)pfam07690    pfam13599    pfam00083   
Conserved Domain (NCBI)SV2C
PDB (RSDB)4JRA    5JLV    5MOY    6ES1   
PDB Europe4JRA    5JLV    5MOY    6ES1   
PDB (PDBSum)4JRA    5JLV    5MOY    6ES1   
PDB (IMB)4JRA    5JLV    5MOY    6ES1   
Structural Biology KnowledgeBase4JRA    5JLV    5MOY    6ES1   
SCOP (Structural Classification of Proteins)4JRA    5JLV    5MOY    6ES1   
CATH (Classification of proteins structures)4JRA    5JLV    5MOY    6ES1   
SuperfamilyQ496J9
AlphaFold pdb e-kbQ496J9   
Human Protein Atlas [tissue]ENSG00000122012-SV2C [tissue]
HPRD18753
Protein Interaction databases
DIP (DOE-UCLA)Q496J9
IntAct (EBI)Q496J9
BioGRIDSV2C
STRING (EMBL)SV2C
ZODIACSV2C
Ontologies - Pathways
QuickGOQ496J9
Ontology : AmiGOprotein binding  plasma membrane  neurotransmitter transport  chemical synaptic transmission  synaptic vesicle  integral component of membrane  transmembrane transporter activity  integral component of synaptic vesicle membrane  synaptic vesicle membrane  synaptic vesicle membrane  neuron projection  transmembrane transport  
Ontology : EGO-EBIprotein binding  plasma membrane  neurotransmitter transport  chemical synaptic transmission  synaptic vesicle  integral component of membrane  transmembrane transporter activity  integral component of synaptic vesicle membrane  synaptic vesicle membrane  synaptic vesicle membrane  neuron projection  transmembrane transport  
Pathways : KEGGECM-receptor interaction   
NDEx NetworkSV2C
Atlas of Cancer Signalling NetworkSV2C
Wikipedia pathwaysSV2C
Orthology - Evolution
OrthoDB22987
GeneTree (enSembl)ENSG00000122012
Phylogenetic Trees/Animal Genes : TreeFamSV2C
Homologs : HomoloGeneSV2C
Homology/Alignments : Family Browser (UCSC)SV2C
Gene fusions - Rearrangements
Fusion : MitelmanPPM1H::SV2C [12q14.1/5q13.3]  
Fusion : MitelmanSKIV2L2::SV2C [5q11.2/5q13.3]  
Fusion : QuiverSV2C
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSV2C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SV2C
dbVarSV2C
ClinVarSV2C
MonarchSV2C
1000_GenomesSV2C 
Exome Variant ServerSV2C
GNOMAD BrowserENSG00000122012
Varsome BrowserSV2C
ACMGSV2C variants
VarityQ496J9
Genomic Variants (DGV)SV2C [DGVbeta]
DECIPHERSV2C [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSV2C 
Mutations
ICGC Data PortalSV2C 
TCGA Data PortalSV2C 
Broad Tumor PortalSV2C
OASIS PortalSV2C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSV2C  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSV2C
Mutations and Diseases : HGMDSV2C
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSV2C
DgiDB (Drug Gene Interaction Database)SV2C
DoCM (Curated mutations)SV2C
CIViC (Clinical Interpretations of Variants in Cancer)SV2C
Cancer3DSV2C
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610291   
Orphanet
DisGeNETSV2C
MedgenSV2C
Genetic Testing Registry SV2C
NextProtQ496J9 [Medical]
GENETestsSV2C
Target ValidationSV2C
Huge Navigator SV2C [HugePedia]
ClinGenSV2C
Clinical trials, drugs, therapy
MyCancerGenomeSV2C
Protein Interactions : CTDSV2C
Pharm GKB GenePA134888452
PharosQ496J9
Clinical trialSV2C
Miscellaneous
canSAR (ICR)SV2C
HarmonizomeSV2C
ARCHS4SV2C
DataMed IndexSV2C
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSV2C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:36:17 CET 2022

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